A new syndrome caused by biallelic mutations - those produced in both gene copies inherited from the mother and father - in the FANCM gene predisposes the body to the appearance of tumours and causes rejection to chemotherapy treatments. Contrary to what scientists believed, the gene does not cause Fanconi anaemia. Researchers recommend modifying the clinical monitoring of patients with these mutations. A research led by Jordi Surrallés, professor of the Department of Genetics and Microbiology at the Universitat Autònoma de Barcelona, director of the Genetics Unit at the Hospital de la Santa Creu i Sant Pau and lead researcher at the Centre for Biomedical Network Research on Rare Diseases (CIBERER), has identified a new genetic syndrome caused by mutations in both copies of the FANCM gene, also known as biallelic mutations. The results, published in Genetics in Medicine, the official journal of the American College of Medical Genetics and part of the Nature group, suggest that these mutations predispose the body to early formations of tumours and chemotherapy toxicity.

Dr. Nikolay Ninov, group leader at the DFG research center for Regenerative Therapies Dresden (CRTD), Cluster of Excellence at the TU Dresden, and Paul Langerhans Institute Dresden (PLID), and his group developed a system called “Beta-bow”, which allows the history of β-cells to be traced by genetic bar-coding and multicolor imaging. The results of this study are now published in the scientific journal Nature Communications.

Tracing the history of individual cells in the developing organism can reveal functional differences among seemingly uniform cells. This knowledge is important for defining the characteristics of highly regenerative cells in order to target them for cellular therapies, as well as to prevent the formation of unfit cells, which compromise the overall health of the organism. The study introduced here presents a new method for tracing the history of β-cells, which perform the essential function of secreting insulin in response to glucose. The authors traced β-cells with regards to their proliferation, function and time of differentiation in the zebrafish. The study shows that β-cells with different developmental histories co-exist together, which leads to the formation of dynamic sub-populations that differ in their potential for undergoing proliferation and performing functional tasks. The study also reveals the onset of β-cell function in zebrafish, which opens new avenues to investigate how β-cells acquire a functional state using this powerful genetic model.